The frequency of A91V in the perforin gene and the effect of tumor necrosis factor-α promoter polymorphism on acquired hemophagocytic lymphohistiocytosis Perforin geninde A91V frekansı ve tümör nekrozis-α faktör promotor polimorfizminin edinsel hemofagositik lenfohistiositoza etkisi
نویسندگان
چکیده
Hamza Okur1, Şule Ünal1, Günay Balta1, Didem Efendioğlu2, Eren Çimen1, Mualla Çetin1, Aytemiz Gürgey1, Çiğdem Altay3, Fatma Gümrük1 1Department of Pediatrics, Division of Pediatric Hematology, Faculty of Medicine, Hacettepe University, Ankara, Turkey 2Department of Pediatrics, Division of Neonatology, Faculty of Medicine, Kırıkkale University, Kırıkkale, Turkey 3The Turkish Academy of Sciences Honorary Member, Ankara, Turkey
منابع مشابه
A FUNCTIONAL ANALYSIS OF THE PUTATIVE POLYMORPHISMS A91V AND N252S, AND 22 MISSENSE PERFORIN MUTATIONS ASSOCIATED WITH FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS. Short Title: Analysis of perforin mutations associated with HLH
Up to 60% of cases of the autosomal recessive immunodeficiency, hemophagocytic lymphohistiocytosis (HLH) are associated with mutations in the perforin (PRF1) gene. In this study, we expressed wild-type and mutated perforin in rat basophil leukemia cells to study the effect on lytic function of the substitutions A91V and N252S (commonly considered to be neutral polymorphisms), and 22 perforin mi...
متن کاملA functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis.
Up to 60% of cases of the autosomal recessive immunodeficiency hemophagocytic lymphohistiocytosis (HLH) are associated with mutations in the perforin (PRF1) gene. In this study, we expressed wild-type and mutated perforin in rat basophil leukemia cells to study the effect on lytic function of the substitutions A91V and N252S (commonly considered to be neutral polymorphisms) and 22 perforin miss...
متن کاملPerforin Gene Analaysis in an Iranian Family with Familial Hemophagocytic Lymphohistiocytosis
Perforin gene (PRF1) mutations have been reported in 20-30% of patients with familial hemophagocytic lymphohistiocytosis (FHL), an immune disorder of infancy and early childhood. Cytotoxic T and natural killer (NK) cell activities are remarkably reduced or ab-sent in FHL patients. We report the first cases of familial hemophagocytic lymphohistiocy-tosis in an Iranian family with two siblings. E...
متن کاملVariations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function.
Mutations decreasing function of the Fas death receptor cause the autoimmune lymphoproliferative syndrome (ALPS) with autoimmune manifestations, spleen/lymph node enlargement, and expansion of CD4/CD8-negative T cells. Dianzani Autoimmune Lymphoproliferative Disease (DALD) is a variant lacking this expansion. Perforin is involved in cell-mediated cytotoxicity and its biallelic mutations cause f...
متن کاملFunctional impact of A91V mutation of the PRF1 perforin gene.
Perforin (PRF1) gene mutations have been associated with Familial Hemophagocytic Lymphohistiocytosis type 2 (FHL2). Substitution p.A91V (c.272C>T) in exon 2 was first described as a neutral polymorphism. Nonetheless, recent clinical evidence and functional assays, suggest a potential pathogenic role for p.A91V, especially in compound heterozygous individuals. Moreover, p.A91V homozygosity has b...
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